Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of metabolism/homeostasis (HP:0001939)

Parent Node:
Abnormal circulating nucleobase concentration (HP:0010932)

..Starting node
..Increased phosphoribosylpyrophosphate synthetase level (HP:0003240)

Term ID:

3240

Name:

Increased phosphoribosylpyrophosphate synthetase level

Synonym:

Increased phosphoribosyl pyrophosphate synthetase activity; Increased PRPS1 activity

Definition:

Abnormally elevated level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.

Comments:

Reference:

HP:0003240

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal circulating purine concentration (HP:0004352)

Abnormal circulating pyrimidine concentration (HP:0004353)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003240	HP:0003240	Increased phosphoribosylpyrophosphate synthetase level	0	PRPS1 CL E G H	5631	9462	ORPHA:411536	Mild phosphoribosylpyrophosphate synthetase superactivity	HP:0040281 - Very frequent	49
HP:0003240	HP:0003240	Increased phosphoribosylpyrophosphate synthetase level	0	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0003240	HP:0003240	Increased phosphoribosylpyrophosphate synthetase level	0	PRPS1 CL E G H	5631	9462	ORPHA:411543	Severe phosphoribosylpyrophosphate synthetase superactivity	HP:0040281 - Very frequent	49

Genes (1) :PRPS1

Diseases (3) :ORPHA:411536 OMIM:300661 ORPHA:411543

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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